Michael D. Pettersen M.D.

Director, Echocardiography

Rocky Mountain Hospital for Children

Denver, CO

michael_pettersen@pediatrix.com

ASEeXAM

Review Course

Congenital Heart Disease for the Adult Echocardiographer The vast majority of congenital heart defects are currently detected within the first several years of life.

Therefore, the term “adult congenital heart disease” is something of an oxymoron. In the “ancient” days

before diagnostic ultrasound, there was less precision in early diagnosis. Improvements in surgical

techniques for correcting most congenital cardiac defects have progressed along with our diagnostic skills,

making early diagnosis easier and necessary. For all of these reasons, congenital heart disease is more

commonly recognized and more frequently diagnosed today than in years past. The result of this is a

declining population of adult patients with undiagnosed congenital heart defects. However, the

improvements in the success of medical management and surgical repair has led to the growing number of

patients who reach adulthood. The clinical course, natural history, and outcome for many of these patients

is uncertain because of the time has not allowed for collection of the “unnatural history” of the repaired

defects.

The ASEexam® will probably deal mainly with issues of unrepaired congenital heart disease. Therefore,

these items will be emphasized in this manual and talk. However, questions may appear which deal with

knowledge of congenital operations in terms of “what they do”, although the imaging issues are apparently

not addressed in detail.

Basics Principles of Congenital Heart Disease

An understanding of the incidence and frequency of congenital heart disease will aid the clinician in

developing an index of suspicion for variation types of defects.

Perspective

The science of pediatric cardiology is almost 50 years old. Prior to about 1947, there was very little to offer

patients with congenital heart disease and many died. In the last 40 years and particularly the last 15-20,

great strides have been made in imaging, surgery and interventional techniques which have significantly

improved the outcome. However, since we are dealing with children who have a whole lifetime to live, we

still do not know what the distant future may hold for many of our successes. This unknown perspective

should be emphasized when counseling the patients and parents of children with congenital heart disease.

Incidence

The incidence of congenital heart disease is approximately 0.5-0.8% of live births. The incidence may be

higher in premature babies than in full-term infants if PDA is included, and congenital cardiac malformations

are much more common in stillbirths than in live births. Heart disease remains the most common lethal

anomaly in the newborn. About 32,000 infants are born each year with congenital heart disease.

Approximately 960,000 Americans with heart defects are alive today. 1993 death rates for congenital heart

disease is about 2 per 100,000 people.

The figures quoted above do not include mitral valve prolapse (MVP) or the congenitally bicuspid aortic

valve, (BAV) which occur in 4-6% and 1-2% of the population, respectively.

Frequency of Congenital Heart Defects Congenital defects

%CHD

Simple shunts (ASD, VSD, PDA)

50

Simple obstruction (AS, PS, coarctation)

20

Complex (combination lesions, tetralogy, etc.)

30

Frequency of individual defects

Cardiac Malformation *

% CHD

M:F Ratio

Ventricular Septal Defect (VSD)

18-28

1:1

Patent Ductus Arteriosus (PDA)

10-18

1:2-3

Tetralogy of Fallot

10-13

1:1

Atrial Septal Defect (ASD)

7-8

1:2-4

Pulmonary Stenosis

7-8

1:1

Transposition of the Great Arteries

4-8

2-4:1

Coarctation of the Aorta

5-7

2-5:1

Atrioventricular Canal Defect

2-7

1:1

Aortic Stenosis

2-5

4:1

Truncus Arteriosus

1-2

1:1

Tricuspid Atresia

1-2

1:1

Total Anom. Pulm. Venous Connection

1-2

1:1

*Excludes Mitral Valve Prolapse and Bicuspid Aortic Valve

Etiology

The four etiologic agents which may cause congenital heart disease are the same as those which may

cause various cancers in humans:

1. Heredity & chromosomal defects (e.g., trisomy 21, with AVSD or VSD.

2. Viruses (e.g., Rubella syndrome, with PDA).

3. Chemicals (e.g., Thalidomide, with truncus or tetralogy).

4. Radiation (e.g., x-irradiation, with VSD).

However, in most instances the etiology of congenital heart disease in humans cannot be determined and

are felt to be "multifactorial". Multifactorial inheritance means that subsequent children will have a

slightly higher incidence of congenital heart disease. The risk increase from the known 0.8% to about

2%. Recurrence risks are higher if there are more than one child in the family with CHD (about 4-6%)

or if the mother is the affected individual (i.e. if the mother has CHD, the incidence is 6-10%). Most

recurrence is for similar types of lesions and some risks may be higher for certain classes of defects (i.e

conotruncal defects such as tetralogy of Fallot).

Congenital Heart Disease in Common Syndromes/Chromosomal Anomalies

ANOMALY

INCIDENCE(%)

MOST COMMON LESIONS

1

2

3

Trisomy 21 50 VSD AVC ASD

Trisomy 18* 99+ VSD PDA PS

Trisomy 13* 90 VSD PDA Dextro

45,X Turner 35 Coarct AS ASD

Noonan 50-80 PS ASD

Williams 80 Supravalve AS Supravalve PS VSD

Holt-Oram 70 ASD VSD

Marfan 50+ Aortic root dilation MVP

DiGeorge, 22q11 80 VSD Arch anom. TOF

* Generally considered lethal and probably will not survive to adulthood

The Unoperated Adult with Congenital Heart Disease

Congenital heart disease surviving to adulthood

The largest influence on the survival of patients with congenital heart disease has been by advances in

surgical techniques to palliate and repair these defects. Two basic classes of problems are seen which

allow survival into adult years: 1) defects which allow survivability without surgical intervention 2)

defects which can be successfully repaired and survival to adulthood is anticipated. Both of these

classes of patients provide a significant challenge to the clinician in the initial evaluation of these patients.

Defects which allow survivability to adulthood without surgical intervention Defects

Survivability

Symptoms

Murmur

Cyanosis

ASD

++++

+/-

+

-

Part. anom. pulm. veins

++++

+/-

+

-

Bicuspid aortic valve

++++

-

+

-

Small VSD

++++

-

++++

-

Subaortic membrane

+++

+/-

+++

-

Ebstein’s anomaly

+++

+/-

+/-

+

Corrected transposition

+++

+/-

+/-

-

Pulm. valve stenosis

+++

+/-

+++

-

Coarctation of the aorta

+++

+/-

+/-

-

Tetralogy of Fallot

+

+++

++++

+++

Defects

Survivability

Symptoms

Murmur

Cyanosis

ASD

++++

+/-

+

-

Part. anom. pulm. veins

++++

+/-

+

-

Bicuspid aortic valve

++++

-

+

-

Large VSD/AV canal +/- ++++ +/- ++

Pulm. atresia w/ ASD

+/-

++++

+

++++

Single ventricle

+/-

++++

+++

++

Fetal Echocardiography (not discussed in lecture)

Fetal echocardiography may be used to detect most major and minor cardiac defects. This test is

generally performed as early as 18-20 weeks gestation. This timing allows for optimal visualization of

cardiac structures by balancing fetal size with the relative amount of amniotic fluid and bony rib density.

The heart has completed its development by 8 weeks of gestation.

Established indications for fetal echo:

1. Previous child with heart disease

2. Personal (maternal) history of heart disease

3. Suspected heart rhythm problem in the baby

4. Fluid around the baby's heart (hydrops)

5. Suspected heart defect in the baby/abnormal OB ultrasound

6. Suspected non-cardiac defect in baby with potential related cardiac disease

7. Maternal history of diabetes

8. History of drug/medicine/teratogen use

The fetal cardiac circulation is unique. Several

important principles must be understood. The lungs are

not being used for oxygen exchange. Two important

fetal pathways, the foramen ovale and the ductus

arteriosus are used to bypass the lungs and send blood

directly to the systemic circulation. A ductus venosus is

present to bypass the liver and allow better oxygenated

blood to pass directly to the heart and hence to the

fetal systemic circulation. Fetal ventricular, aortic and

pulmonary pressures are all about equal and at

systemic levels. Fetal oxygen saturation is relatively low

(about 60%). This is compensated for by the presence

of fetal hemoglobin, which enhances oxygen extraction

at low oxygen tensions.

A ductus arteriosus is necessary for survival. This is

particularly true with congenital heart disease in cases

of significant obstruction to either systemic or

pulmonary flow (so-called "ductal dependent" lesions).

The ductus arteriosus is then kept open artificially after

birth with prostaglandin E 1, infused continuously until corrective measures can be taken.

Defects which are relatively easy to detect with fetal echocardiography include those defects which have

significantly abnormal 4-chamber views such as various forms of single ventricle or atrioventricular canal

as well as large septal defects. Defects which are a normal part of fetal circulation may be subtle (PDA,

secundum ASD) in addition to isolated anomalies of pulmonary veins or coarctation of the aorta (which

may be "masked" by the presence of the large fetal ductus.

Pregnancy and Maternal Congenital Heart Disease (not discussed in lecture)

Maternal congenital heart disease poses a new set of problems for the clinician and

echocardiographer. A thorough knowledge of the hemodynamics of each individual’s congenital heart

disease should be present before making generalizations about any individual clinical problem.

Patients who have grown up with CHD, even those with multiple operative procedures, are often very

ignorant of the specifics of their own hear problem. This is because the pediatric cardiologist usually

directs the discussion to the responsible parent during many informative discussions. OLD RECORDS

are essential in this type of evaluation so that incorrect diagnoses may be rejected.

Prior to pregnancy:

1. Pregnancy should be planned. Appropriate non-invasive or invasive evaluation of pregnancy risk

should be sought.

2. Contraception should be considered. In many forms of CHD, standard-dose estrogen oral agents

may increase the risk of thrombosis and should be avoided.

3. The increased recurrence risk of the offspring of affected individuals should be mentioned.

Effects of pregnancy:

1. Volume expansion: Cardiac output and total blood volume increases until about 30 weeks gestation.

2. Systemic hypertension may be present in later stages of pregnancy and may profoundly effect

hemodynamics.

3. The risk of SBE is generally low.

4. Patients with obligatory intracardiac shunts are at increased risk for embolic phenomena.

Defects not found above probably fall into a moderate risk category clinically. Tetralogy of Fallot is a

good example. However, obstetricians and perinatologists do not have "moderate risk" categories, so

many of these patients will be classified as high risk. More data is being collected regularly on the risk

and outcome of these types of pregnancies.

Cardiac defects which are low risk:

Post repair of a simple shunt

Simple, mild valvular abnormalities

(Bicuspid AV, mild PS)

Cardiac defects which are high risk:

Eisenmengers/pulmonary hypertension -Pregnancy contraindicated

. Single ventricle- Fontan

Marfan syndrome

Significant aortic stenosis, coarctation

Ventricular failure

Clinical and Anatomic Aspects of Congenital Heart Lesions

1) Ventricular Septal Defect (VSD)

Definition. A ventricular septal defect is an abnormal opening in the ventricular septum, which allows

communication between the right and left ventricles. It is the most common form of congenital heart

disease, accounting for about 25% of defects.

Anatomy. (1) Perimembranous VSD (membranous

VSD). This is the most common form of VSD and either

involves or is adjacent to the membranous septum. (2)

Infundibular VSD (subpulmonary or supracristal VSD).

This type of VSD involves the RV outflow tract (conus

or infundibulum). These defects are frequently partially

occluded by a cusp of the aortic valve, which may cause

aortic insufficiency over time.

(3) Muscular VSD. This type of defect may be either

single or multiple and involves the inflow or trabeculated

(apical) ventricular septum.

(4) Atrioventricular septal defects (inlet VSD, AV canal)

involve the inflow portion of the septum and virtually

always are associated with AV valvular abnormalities.

Associated Anomalies. Approximately 25-30% of VSD's occur as isolated defects. The remainder

are associated with other anomalies (e.g., PDA, ASD, coarctation) or are an integral part of certain

anomalies (e.g., tetralogy, truncus, and some transpositions). Aortic insufficiency may also be present.

Hemodynamics. A left-to-right shunt occurs not because left ventricular pressure is higher than right

ventricular pressure but because pulmonary vascular resistance is less than systemic vascular resistance.

The prime directive dictates that systemic pressure is maintained, so the right ventricular pressure is

raised to systemic levels if the defect is large. As a result, pulmonary arterial pressure may be greatly

elevated. There is pressure hypertrophy of the right ventricle and volume hypertrophy of the left atrium

and left ventricle. The pulmonary arteries will become dilated and thick-walled. The hemodynamic

significance of the defect depends upon its size and the amount of flow and pressure which is transmitted

to the right heart and pulmonary arteries. Large defects will allow a large amount of pressure and flow

through; a phenomenon which will decrease as the size of the hole decreases.

Clinical. The small VSD has a loud holosystolic murmur along the left sternal border but is rarely

symptomatic. At least 50-80% of small VSD's will close spontaneously. The large VSD is

approximately as large as the aortic orifice, and such a defect is almost always symptomatic and will

probably not close spontaneously. A small percentage of perimembranous defects, even though large

will close or narrow. Presentation depends on size: small defects usually present as an asymptomatic

murmur, larger defects usually present as a symptomatic murmur. Symptoms include increased

AO

LA

LV

Left Ventricular View

1 2

3

4

Right Ventricular View

IVC

SVC

RV

MPA

RA

1

1 PERIMEMBRANOU

S

2

2 SUPRACRISTAL

3

3 MUSCULAR

4

4 INLET

respiratory effort and/or feeding difficulties. The additional presence of an apical mitral diastolic

flow rumble from the defect represents significantly increased flow.

In most unoperated patients with a large VSD, obstructive pulmonary vascular disease eventually

develops, and a right-to-left shunt (shunt reversal) with cyanosis becomes evident (Eisenmengers

syndrome). Once irreversible pulmonary hypertension is present, the VSD is considered inoperable.

Even in large VSD's, Eisenmengers syndrome is uncommon under 1 year.

Echocardiographic Evaluation of VSD

Practical Summary - VSD

1. Timing of surgery - depends on the size of the

defect. Large, non-restrictive defects are often closed

within the first few months of life. Less symptomatic

defects are often followed to see if they are closing

with serial echo and clinical exam. Most defects

requiring closure are closed by school age.

2. LA dilation - a significant VSD will generally

produce significant LA dilation as blood goes to the lungs and returns to the LA.

3. Size of the defect - can vary tremendously with a particular view and the phase of the cardiac cycle.

For ASD we generally look at the largest dimension. For VSD we need to know the systolic

dimension. Perimembranous VSD’s may be partially covered with tissue from the tricuspid valve,

forming a “septal aneurysm”. In this case measure the smallest orifice that the VSD jet passes

through in systole.

Echo Checklist - VSD

1. Identify defect, scan for additional defects

2. Confirm flow through defect with color/CW

3. Measure gradient across defect

4. Measure size of defect in systole

5. Measure size of aortic anulus in systole

6. Measure RV pressure

Parasternal Short Axis - Base

RV

LA RA

IVC

PA

Defects seen in this

region

are perimembranous

Supracristal

VSD's

are seen here

Parasternal Short-Axis - Mid-Ventricle

LV

RV

Muscular (trabecular)

VSD's can be seen anywhere

along the septum from this view

Apical Four- Chamber View

Apical muscular VSD's can

be seen from this view. Size

may vary from tiny to large.

RA

LA

LV

RV

Inlet VSD's are best seen

from this view.

Apical Five-Chamber View

This v iew nicely

demonstrates a perimembranous

VSD and its relationship to the

aortic and tricuspid v alv es

LA

LV RV

RA

4. Aortic regurgitation - supracristal defects and some perimembranous defects can distort the aortic

valve and cause aortic regurgitation, particularly in older children.

5. Type of surgical closure - this is an open heart procedure, median sternotomy, usually with patch

closure. The patch is sewn to the RV side of the septum and may be difficult to distinguish from normal

tissue after many years. Usually it is echo-bright.

2) Patent Ductus Arteriosus (PDA) Definition. A patent ductus arteriosus is persistent patency of a normal structure, the ductus arteriosus,

which is present in intrauterine life. This vessel is large in the fetus; equal in size to the main pulmonary

artery and descending aorta. This vessel usually closes functionally within

12-24 hours and undergoes complete anatomic closure and fibrosis

within three weeks in term newborn infants. The incidence of persistent

patency is much higher in premature infants and is related to the degree

of prematurity.

Anatomy. The ductus arteriosus arises from the anterior surface of the

upper descending aorta just distal to the origin of the left subclavian

artery. It is a short vessel which enters the main pulmonary artery medial

to the left pulmonary artery branch.

Associated Anomalies. Usually a PDA is an isolated anomaly.

Hemodynamics. A left-to-right shunt occurs in a fashion similar to that

seen in VSD, because pulmonary vascular resistance is less than systemic vascular resistance. The

prime directive dictates that systemic pressure is maintained, so the pulmonary arterial pressure is raised

to systemic levels if the defect is large. There is pressure hypertrophy of the right ventricle and volume

hypertrophy of the left atrium and left ventricle. The hemodynamic significance of the defect depends

upon its size and the amount of flow and pressure which is transmitted to the pulmonary arteries. Large

ducti will allow a large amount of pressure and flow through; a phenomenon which will decrease as the

size of the ductus decreases. Most PDA’s will undergo some degree of closure. This will restrict flow

and pressure to the pulmonary arteries.

Clinical. Most PDA’s will be suspected on the basis of a heart murmur. In the newborn or premature

infant varying degrees of respiratory distress may be seen. Because the ductus represents a connection of

the high resistance systemic circulation to the low resistance pulmonary circulation, the pulse pressure will

widen and bounding pulses are often felt. The murmur in older children is high-pitched, continuous with

systolic accentuation. In the premature infant, often only the systolic component of the sound is heard.

Diagnosis should be made on clinical grounds and confirmed with echocardiography. No other tests are

needed.

PDA

AO

MPA

LPA

Desc AO

Echocardiographic Evaluation

The ductus arteriosus is not a difficult structure to

image. Imaging planes should be sought which include

a view of both the pulmonary artery and aorta. This is

usually best accomplished from a sagittal plane in the

high left parasternal area. Parasternal short axis views

may often miss small ducti. Using color flow Doppler

exclusively to identify ductal flow is often successful but

may also produce mistakes when there is pulmonary

hypertension and flow is right-to-left.

Practical Summary - PDA

1. Timing of surgery - PDA is usually “find it - fix

it”. Some very tiny PDA’s without an associated

murmur (silent PDA), may not require closure.

PDA in the newborn maybe closed medically with

Indomethacin.

2. Catheter closure - Many non-neonatal PDA’s

are being closed in the cath lab using wire coils

which are positioned directly in the ductus.

3). Type of surgical closure - closed heart, left

lateral thoracotomy, ligation and division. If the PDA is ligated only, a few may recanalize and regain

patency. If the PDA is divided, it should be gone for good.

Pulmonary artery pressure may be calculated if

one knows the systolic arm blood pressure and

uses the Bernoulli equation: (Systolic pulmonary

artery pressure = systolic blood pressure - 4

VPDA2).

Echo Checklist – PDA

1. Identify defect/establish diagnosis.

2. Confirm flow through defect with color.

3. Measure gradient across PDA.

4. Measure size of PDA (length & width).

5. Establish pulmonary artery and arch patency.

PA

LA

LV

RV

Desc AO

PDA

Parasternal Ductal View

(High Left Parasternal)

LV

RV

DDoopppplleerr FFllooww PPaatttteerrnn

PA

LA

AO

IVC

SVC

RV

MPA

1

1 SECUNDUM

2

2 PRIMUM 3

3 SINUS VENOSUS

4

4 CORONARY SINUS

3) Atrial Septal Defect (ASD)

Definition. An atrial septal defect is an abnormal opening in the atrial septum, which allows free

communication between the right and left atria. (In one-third of normal adults, a patent foramen ovale

exists; this is not an ASD.)

Anatomy. (1) Secundum ASD

(ostium secundum ASD; ASD II; ASD

at fossa ovalis). This is the most

common form of ASD. (2) Primum

ASD (ostium primum ASD; ASD I;

endocardial cushion defect; partial AV

canal). This form of ASD lies

antero-inferior to the fossa ovalis and is

often associated with a cleft mitral valve.

(3) Sinus venosus ASD. This form of

ASD lies posterior to the fossa ovalis

and is usually associated with anomalous

connection of the right pulmonary veins to the right atrium. (4) Coronary sinus ASD. This form of ASD

involves the anticipated site of the coronary sinus ostium. An “unroofing” of the coronary sinus creates the

defect.

Associated Anomalies. The majority of ASD's occur as isolated lesions. When an ASD occurs with

another cardiac defect, the associated anomaly is almost always the more severe lesion (e.g., VSD, PDA,

tetralogy, transposition, truncus, tricuspid atresia, TAPVC).

Hemodynamics. A left-to-right shunt occurs not because left atrial pressure is slightly higher than right

atrial pressure but primarily because the thin-walled right ventricle fills more easily than the thick-walled left

ventricle and downstream pulmonary resistance is lower than systemic. As a result, pulmonary blood flow

may be 2-4 times normal. There is dilation and volume overload of the right atrium and right ventricle. The

pulmonary arteries become dilated, and eventually the tricuspid and pulmonary annuli also dilate. Because

normal atrial pressures are low, there is no transmission of pressure to the pulmonary arteries.

Clinical. Most patients present as an asymptomatic heart murmur after one year of age. The significance

of the size of the defect is relative to the size of the patient. In general, a defect large enough to produce

cardiomegaly on CXR is probably significant and may require surgical closure. The presence of a diastolic

tricuspid flow rumble probably reflects a significant shunt. This lesion does not generally require

catheterization, but can be repaired using echo alone. TEE may be needed in the adult. The heart murmur

from an ASD is a softer systolic ejection murmur from the pulmonic area with widened and sometimes fixed

splitting of the second heart sound. Diagnosis should be made by discovery of a typical heart murmur with

confirmation by echocardiography. No other tests should be required.

SSuubbccooss tt aall FFoouurr--CChhaammbbeerr VViieeww

LA

RA LV

RV

SV ASD Sec. ASD

Primum ASD

SSuubbccooss tt aall CCaavvaall VViieeww

RA

LA

IVC

SVC

RV

Sinus Venosus ASD

Secundum ASD

PPaarraass tt eerrnnaall SShhoorrtt AAxxiiss -- BBaassee

Secundum (and primum)

ASD's may be seen from

this view if the angle

is right

RV

RA

LA

MP

A

AV

Dilated RV

AApp iiccaall FFoouurr--CChhaammbbeerr VViieeww

RA LA

RV

LV

Secundum ASD

Primum ASD

Echocardiographic Evaluation of ASD

Doppler flow through an ASD has a

characteristic pattern as shown at left. The

flow begins in early systole and continues

almost throughout the cardiac cycle with a

broad peak in late systole and early

diastole. The peak velocity is usually about

2 m/sec although the number is rarely

important clinically. The pattern

represents a combining of the flows from

the pulmonary and systemic veins.

DDoopppplleerr FFllooww

LA

RA LV

RV

Practical Summary - ASD

1. Timing of surgery - usually after age 2 years,

unless symptoms are present.

2. RV dilation - a significant ASD will generally

produce RV dilation, a general indicator of the need to

close the defect.

3. Non-surgical options - expect to see more

device closures of secundum defects in the future.

Qp/Qs - The amount of shunt through any defect may be

expressed as a ratio of pulmonary to systemic flow or

Qp/Qs. Normally, with no shunt, the Qp/Qs is 1. Doppler

and 2-D exams can give all of the information needed to

make this calculation. Measure the area of both the aortic

and pulmonary valves using the equation: area = πr2

(r=anulus diameter/2). Trace the Doppler flow through each

valve to get the time-velocity integral and express the

product of these two numbers as a ratio. A Qp/Qs > 1.5 is a

significant shunt.

Echo Checklist - ASD

1. Identify defect, significant RV enlargement.

2. Confirm flow through defect with color/PW.

3. Measure size of defect in largest dimension.

4. Identify/rule out AV valve regurgitation.

5. Measure RV pressure, especially in adults.

6. If defect is questionably small, do Qp/Qs.

Identification of Pulmonary Veins

Although the surgeon will generally inspect the

left atrium for the entry points of the pulmonary

veins, echocardiographic identification of these

structures should be carried out as part of the

routine evaluation of the patient with ASD. The

suprasternal short axis view or "crab" view is very

helpful in this effort.

PPuullmmoonnaarryy-- ttoo--SSyysstteemmiicc FFllooww RRaattiioo

QQpp //QQss == AA22xxVV22 // AA11xxVV11

RV

LA

RA

IVC

PA

AV

V2 = Pulmonary

valve Doppler

A2 = Pulmonary

valve area

A1 = Area at aortic

annulus

by formula - r2

RA

LV

RV

LA

V1 = Doppler velocity across

aortic valve, usually expressed

as flow velocity integral

LA

SVC

RPA

AO

MPA

Innom. v ein

LUPV

LLPV

RUPV

RLPV

IIddeennttiiffiiccaattiioonn ooff PPuullmmoonnaarryy VVeeiinnss

“Crab View”

4) Tetralogy of Fallot (TOF)

Definition/Anatomy. Tetralogy of Fallot is classically defined as: 1) right ventricular hypertrophy 2)

ventricular septal defect 3) overriding aorta 4) pulmonary stenosis, but is actually a spectrum of defects

probably resulting from abnormal conotruncal septation. This leads to anterior deviation of the infundibular

septum which in turn "crowds" the right ventricular outflow tract leading to sub-pulmonary stenosis or atresia.

The anterior deviation of the infundibular septum also is responsible for the malalignment ventricular septal

defect and dextroposition of the aorta. Tetralogy occurs in approximately 9% of children born with congenital

heart defects.

Associated Anomalies. In addition to the “tetrad” the following anomalies may co-exist: Valvular pulmonary

stenosis (50-60%), Right aortic arch (25%) - usually mirror image branching, Atrial septal defect (15%),

Coronary anomalies (esp. LAD from right coronary 5%) Additional muscular VSD (2%), Unilateral absent

pulmonary artery (rare).

Hemodynamics. The VSD in tetralogy is virtually always large and non-restrictive, leading to systemic

pressures in the right ventricle. The pulmonary stenosis in tetralogy is highly variable but usually increases

in severity with age. Some patients with tetralogy begin life with very little pulmonary stenosis and are not

cyanotic ("pink tetralogy"). These patients may even experience a short period of excessive pulmonary

flow. Progressive sub-valvular (infundibular) pulmonary stenosis leads to increasing obstruction to

pulmonary blood flow. With such obstruction, two things happen: 1) Right-to-left shunting occurs at the

ventricular level 2) Relatively less blood gets to the lungs to become oxygenated. The combination of

these two effects results in increasing cyanosis. The severity of pulmonary stenosis generally determines

the magnitude of the right-to-left shunt. Unlike other large VSD’s, patients with TOF will be relatively

protected from the high pressure damage to the lung vasculature because the pulmonary stenosis restricts

lung flow and pressure.

Clinical. Patients with TOF present most

often as an asymptomatic heart murmur

heard at the first office visit to the

pediatrician or family practitioner. Some

will also be picked up in the newborn

period, but the murmur is often much softer

at that time because 1) the subpulmonary

stenosis has not developed significantly to

produce turbulence and 2) pulmonary

resistance is high and flow is decreased in

the first day of life as the infant goes through

normal transition. The children usually

remain asymptomatic, with normal growth

and development.

RA

RV LV

AO

RA

RV

LV

AO

RA

RV LV

AO

"Pink Tetralogy"

Mild Pulmonary Stenosis

Classic Tetralogy Severe Tetralogy or

Pulmonary Atresia

AAnnaatt oommiicc VVaarriiaabblleess

TTeettrraallooggyy ooff FFaalllloott

Echocardiographic Evaluation of Tetralogy of Fallot

Practical Summary - Tetralogy of Fallot

1. Timing of surgery - Most surgical correction is completed before 6 months of age, often within 2-3

months.

2. Complicating features - coronary anomalies, pulmonary atresia; may result in conduit repair.

3. Many repairs are done with a transanular RV outflow patch which disrupts pulmonary valve function

and creates chronic pulmonary regurgitation.

Echo Checklist – Tetralogy of Fallot

1. Identify all levels of right heart obstruction.

2. Accurately assess the severity of pulmonary valve and pulmonary artery hypoplasia.

3. Identify other associated defects (e.g. additional VSDs; ASDs, PDA, persistent left SVC)..

4. Delineate coronary artery anatomy.

5. Locate arch position and vessels.

PPaarraasstteerrnnaall LLoonngg AAxxiiss

VViieeww

LV LA

AO

CS

R

V

"Malalignment" VSD

with Aortic Ov erride

Mitral-Aortic

Continuity

RV

Hy pertroph

y

PPaarraasstteerrnnaall SShhoorrtt AAxxiiss -- BBaassee

RV

LA

RA

IVC

PA

Outflow VSD

"Malalignment"

type

RV Hypertrophy

Infundibular &

Valvular Stenosis

Position of

"Overriding" Aorta

Apical Five-Chamber

LA

LV RV

RA

Outlet VSD with

Aortic Override

Apical VSD's are

seen in this area

SSuubbccooss tt aall RRVV IInnffllooww//OOuutt ffllooww VViieeww

RA

RV

MPA The right ventricular outflow

obstruction is seen in this view.

This is perhaps the best angle for

Doppler interrogation of the RVOT

5) Pulmonary Valve Stenosis

Definition. Pulmonary stenosis refers to obstruction in the region of either the pulmonary valve or the

subpulmonary ventricular outflow tract.

Associated Anomalies. Most pulmonary valve stenoses are isolated lesions, but a few may be

associated with a patent ductus arteriosus or aortic coarctation. Bicuspid or unicommissural pulmonary

valves may be associated with subpulmonary stenosis in tetralogy or transposition or may rarely coexist

with a ventricular septal defect or bicuspid aortic valve.

Hemodynamics. Due to pulmonary valvular obstruction, there is pressure hypertrophy of the right

ventricle and post-stenotic dilatation of the pulmonary trunk. If subpulmonary stenosis is present (as in

tetralogy), the pulmonary trunk usually is not dilated; the stenotic subpulmonary channel offers resistance

to blood flow so that the high right ventricular pressure is not fully transmitted to the pulmonary valve

and, as a result, no high pressure jet is forced across the valve and against the wall of the pulmonary

trunk.

Clinical. Pulmonary valve stenosis usually presents as an asymptomatic systolic murmur heard best at

the upper left sternal border. Even severe PS in older children rarely produces symptoms. Critical PS

in the newborn may present as cyanosis and/or shock after the ductus arteriosus closes. Mild

pulmonary stenosis found in the infant may become progressively worse with time, but may also get

better and even resolve over several years. The process which occurs to accomplish this “cure” is not

understood.

Practical Summary - Pulmonary

Stenosis

1. Timing of intervention - gradients of >40-50 mm Hg.

Balloon valvuloplasty is the procedure of first choice.

2. Secondary infundibular or supravalvular stenosis may

be present.

Echo Checklist – Pulmonary Stenosis

1. The size of the annulus - is it normal or hypoplastic?

2. The thickness of the valve leaflets - how dysplastic are they?

3. The leaflet excursion - how well does the valve open; do the

leaflets "dome?"

4. The main pulmonary artery - is it hypoplastic? Is there post

stenotic dilatation?

5. The subvalvular area - is there hypertrophy of the

infundibulum and subvalvular stenosis?

6. Is a patent ductus arteriosus present?

PPuullmmoonnaarryy SStteennoossiiss

RV

LA

RA

IVC

PA

6) Transposition of the Great Arteries (TGA)

Definition. Transposition is defined as connection of the aorta to the right ventricle and the pulmonary

artery to the left ventricle. This abnormal ventricular arterial connection is also termed "ventriculo-

arterial discordance" and probably results from abnormal conotruncal septation. Transposition occurs in

approximately 4-8% of children born with congenital heart defects and is associated with a number of

other heart defects including VSD and pulmonary stenosis. "Simple transposition" is a term which refers

to transposition without associated defects. "D-transposition" is a term which refers to the way the

conotruncal septum rotates in utero ("D" for dextro) and has been commonly applied to this entity.

Transposition also occurs in children with other complex forms of congenital heart disease.

Anatomy. In transposition, the aorta arises from the right ventricle, usually in a position which is

anterior and rightward of the pulmonary valve. The two great arteries course parallel to one another; a

distinctly different arrangement from the normal pulmonary artery crossing over the aortic root. There

are basically two forms of transposition: 1) with intact ventricular septum 2) with VSD (usually

perimembranous) There is fibrous continuity between the anterior mitral leaflet and the pulmonary

valve. For survival, areas of mixing must be present at atrial, ventricular or ductal levels. Both coronary

arteries originate from the anterior great vessel (aorta).

Associated Defects. Atrial septal defect, VSD - usually perimembranous, Pulmonary stenosis -

subvalvular, valvular, Patent ductus arteriosus, Coarctation of the aorta

Hemodynamics. In simple transposition, desaturated blood returning to the right ventricle enters the

aorta and returns to the systemic circulation (a “parallel” circulation). This causes severe systemic

desaturation (cyanosis). In a similar manner, fully saturated pulmonary venous return to the left atrium,

enters the left ventricle and then the pulmonary artery. This oxygenated blood then returns to the lungs

where further saturation with oxygen cannot occur. Without intra cardiac mixing of systemic venous or

pulmonary venous blood this physiology results in fatal hypoxia. Survival in children with transposition

depends on the presence of intra cardiac (ASD, VSD) or extracardiac (PDA) shunts that allow mixing

of systemic venous and pulmonary venous blood.

Clinical. Children with TGA are usually discovered shortly after birth because of profound cyanosis.

The is generally not respiratory distress, so oxygen will not be effective in relieving the cyanosis. A

hyperoxia test will not raise the PO2 or saturation significantly. Prostaglandin E1 should be administered

and the patient transferred to a facility with experience in pediatric cardiac surgery. If saturation is

extremely low, acidosis may occur. At that time catheterization with balloon atrial septostomy may be

performed to improve mixing.

D-Transposition of the Great Arteries

D-TGA Intact Septum D-TGA w/ VSD

RV LV

RA AO PA

RV LV

RA

AO

PA

Echocardiographic Evaluation of Complete Transposition

Practical Summary -Transposition

1. Timing of Surgery - first week of life - arterial switch (Jatene). Older patients and adults have had

“atrial switch”, Mustard or Senning operation.

2. Index of suspicion should be high in a cyanotic, otherwise well, infant.

Great artery position is a key to

identifying the type of transposition.

Normally, the pulmonary artery wraps

around the aorta anteriorly as it courses

posteriorly. With D-transposition the

great arteries assume a parallel course,

and the aorta is located anterior and

rightward of the centrally located

pulmonary artery. In L-transposition

(discussed later) the great arteries are

again parallel, but the aorta is anterior

and leftward.

Echo Checklist – Transposition of the Great Arteries

1. Carefully identify great vessels. Parallel great artery position,

aorta anterior and rightward

2. Look for associated defects (VSD, ASD)

3. Evaluate coronary anatomy

Parasternal Long Axis View

LA

LV

RV

MPA

AO

Parasternal Short Axis - Base

R

V

L

A

R

A

IV

C

AO

PA

AO

PA

AO

PA L-TGA

NORMAL

D-TGA

Ant.

Left

7) Coarctation of the Aorta

Definition/Anatomy. Coarctation is a

narrowing in the upper descending aorta

in the region of the ductus arteriosus (or

ligamentum arteriosum). Almost all

coarctation is juxtaductal (in the area of

the ductus).

Associated Anomalies Coarctation is

isolated in 50% of cases. Bicuspid aortic

valve is present in 50%. VSD, PDA and

other left heart obstructive lesions may

also be present.

Hemodynamics. There is obstruction to left ventricular outflow producing pressure hypertrophy of the

ventricle. Coarctation is also a developing lesion which may relate to the timing of ductal closure as well

as the severity of associated aortic arch hypoplasia. If ductal closure results in severe and relatively

sudden obstruction, then left ventricular failure usually ensues. If the obstruction is not as severe or is

more gradual over many months, then collateral arteries may develop, effectively bypassing the

coarctation and supplying blood to the lower body.

Clinical. Infants usually present in some degree of congestive heart failure or shock. Older children

usually present with upper extremity hypertension, absent or decreased femoral pulses or a heart

murmur (most often from the aortic valve). Rib notching may be seen on CXR. The difference in clinical

presentation probably reflects severity, not the position of the ductus relative to the coarctation.

Therefore, terms such as preductal or postductal are less accurate since they refer to anatomy, not

severity. Coarctation, in most cases, is corrected upon discovery. Some mild cases may be observed

for increasing severity. Echocardiography is usually the only diagnostic method which is used to evaluate

coarctation. Catheterization may play a role in defining complicated anatomy or for therapeutic balloon

dilation.

Echocardiographic evaluation of Coarctation of the Aorta

Innom.

Art. LSCA

ASC AO

MPA

Coarctation

Hypoplastic transverse arch and isthmic region

LCCA

Neonatal Coarctation “Adult” Coarctation

Coarctation

ASC AO

LSCA

LCCA Innom.

Art.

Innom.

Art. LSCA

ASC AO MPA

LCCA

Suprasternal Long-Axis View

NEONATAL COARCTATION

EFFECT OF PDA

ANT POST

AV

INN ART LSC ART

LCC ART

PDA

Practical Summary - Coarctation of the Aorta

1. Timing of Surgery - usually at time of diagnosis regardless of age.

2. Gradient may be low despite severe obstruction due to collateral flow.

The definitive Doppler exam should be directed

at the descending aorta in the area of the

coarctation. The continuous wave interrogation

of this area should result in the classic

"sawtooth" flow pattern caused by delayed

diastolic flow through the narrowed area.

Frequently dual velocity envelopes will be seen

representing the pre and post coarctation blood

flow velocities. This classic picture may not be

present: a) in a low cardiac output state, b) if

the ductus arteriosus is widely patent. The

gradient likewise, is not necessarily a good

estimate of the coarctation severity since it is

affected by the cardiac output as well as the

degree of coarctation.

The peak Doppler gradient in coarctation often

overestimates the true (cath-derived) gradient

through the obstruction. This because the pre-

coarctation velocity (influenced by the aortic

valve, which is often abnormal) is sometimes

high and cannot be ignored as we often do in

the modified Bernoulli equation. Therefore the

pre-coarctation velocity must be included in

the calculation for greater accuracy as shown. Echo Checklist – Coarctation of the Aorta

1. Evaluate arch gradient

2. Measure arch caliber

3. Look for associated anomalies (Bic. AV, PDA)

4. Evaluate ventricular function, hypertrophy

Coarctation of the Aorta

PW Doppler

CW

Doppler

V1

V2

P = 4(V22-V1

2)

Doppler Gradient

8) Atrioventricular Canal Defects (AV Septal Defect) Definition/Anatomy. Atrioventricular canal defects (AVC) occur

from a failure of the embryonic endocardial cushions to meet and

normally partition the heart. The result is a defect in the center of

the heart which effects the septae and the support apparatus of the

AV valves. In the most severe form, which is called "complete",

there is an ostium primum atrial septal defect, an inlet VSD, and a

common AV valve that is markedly abnormal. Commonly referred

to as a cleft mitral valve, this actually is a commissure between the

embryologic anterior and posterior bridging leaflets which cross

through the septal defects.

In addition, there is one leaflet committed to the left ventricle and a right lateral and right accessory leaflet

committed to the right ventricle. This common AV valve can be free floating through the septal defects and

unattached to any septum whatsoever, or it can be divided into right and left-sided orifices by a tongue of

tissue that connects the two bridging leaflets. The latter leaves a cleft or commissure between the two

bridging leaflets which allows for blood to flow from the left ventricle to the right atrium directly. If the

attachments of the AV valve are to the crest of the ventricular septum, then most of the shunt will be left-to-

right at the atrial level. Conversely if the septal attachments are free floating or to the crest of the ventricular

septum, then a large ventricular level shunt will be present. When one or more of the components of a

complete canal is absent, then the defect is called an "incomplete" form of AVC.

Associated Defects. The most common associated defect is a patent ductus arteriosus. Other lesions

which may be seen include coarctation of the aorta, hypoplasia of the right or left ventricle, severe left

ventricular outflow tract obstruction, double-orifice mitral valve, additional muscular VSD's, and right

ventricular outflow tract obstruction with or without pulmonary valve stenosis. AVSD's are very common

in association with Down Syndrome, and these patients may be at increased risk for earlier pulmonary

vascular obstructive disease. Hemodynamics. The hemodynamics of this lesion depend upon which

components of the AV canal are present and which predominate. If there is a large primum ASD and no

VSD, then the physiology is like that discussed for ASD's. Similarly, if a large VSD is present, the

physiology is that of other VSD's. The combination of ASD and VSD in complete AVSD can result in

There are four basic components to atrioventricular septal

defects.

1. Inlet VSD

2. Primum ASD

3. Cleft mitral valve

4. Widened antero-septal tricuspid commissure

If all four components are present a complete AV canal is

present. If the VSD is absent, a partial AV canal is present.

Note that the terms: atrioventricular septal defect,

atrioventricular canal defect, and endocardial cushion

defect all mean the same.

AAppiiccaall 44--CChhaammbbeerr VViieeww

RA

RV

LA

LV

RA

RV

LA

LV

Primum ASD

Inlet VSD

Partia

l

Complete

AV Valves

at same level

AAttrriioovveennttrriiccuullaarr SSeeppttaall DDeeffeeccttss

((AAttrriioovveennttrriiccuullaarr CCaannaall))

2

1

1. Inlet VSD

2. Primum ASD

3. Cleft Mitral Valve

4. Abnormal TV

3

4

marked volume overload of the pulmonary circulation. The abnormalities of the AV valves result in

the frequent presence of AV valve regurgitation. There can be mitral valve regurgitation, tricuspid

valve regurgitation, and a left ventricle-to-right atrial shunt. Severe AV valve regurgitation complicates the

clinical course, and patients may be at a higher operative risk because of this. Another complicating

factor is the presence of unequal ventricular chamber sizes with so-called "left" or "right" dominant

AVSD's. These are associated with significantly higher morbidity and mortality and may not allow for a 4-

chamber repair.

Clinical. AV canal defects are usually discovered by the presence of a heart murmur. Patients with

complete AVC defect behave very much like a large VSD, which may have subtle finding early but

develop signs and symptoms of congestive failure as the lung resistance drops. Patients with partial AVC

behave much like patients with other type of ASD, and may be completely asymptomatic; presenting as a

heart murmur.

Echocardiographic Evaluation of Atrioventricular Canal Defects

LLoonngg AAxxiiss VViieeww

LV LA

AO

LV LA

AO

Normal AV Canal

Mitral valve has abnormal orientation

and often has abnormal chordal

attachments across the LV outflow area

CClleefftt MMiittrraall VVaallvvee PPaarraass tt eerrnnaall SShhoorrtt --AAxxiiss VViieeww

Normal Cleft Inlet VSD's

occur

in this location

SSuubbccoossttaall SShhoorrtt AAxxiiss VViieewwss

Diastole

Systole

RV

LV

RVOT

R

V

L

V

RVOT

Clef t Mitral

Valv e

Wide Antero-septal

Tricuspid

Commissure

"Common" AV

Valv e

SSuubbccoossttaall VViieewwss

LA

RA LV

RV

LV

RV

RA

AO

"Gooseneck"

deformity

Primum ASD

and

Inlet VSD

Practical summary - AV Canal

1. Timing of surgery - most often done within the first few months of life because the VSD is usually large

and non-restrictive. If the ventricles are unbalanced (one ventricle hypoplastic), a pulmonary band is often

done early followed by a Fontan-type repair.

2.Type of surgical closure - open heart, midline sternotomy, patch closure of defects with often some

repair of the mitral valve cleft. Transesophageal echo is commonly used to evaluate the repair in the

operating room.

9) Aortic Valve Stenosis

The clinical and echocardiographic issues of aortic stenosis in adults and children are approximately the

same, and will not be discussed in detail in this section.

The biggest clinical problem faced by the pediatric cardiologist occurs when a valve replacement is

contemplated for aortic valve disease in a small child. This complicates the situation because of the lack of

small mechanical prostheses and because of the potential for growth (patients would “outgrow”) even a

successful valve replacement.

The current solution to this clinical dilemma is to wait as long as possible, balancing ventricular

performance against gradient and risk. Surgical solutions which are more frequently encountered in

pediatrics are a Konno procedure, where the aortic annulus is enlarged through the ventricular septum and

patched open to accept a larger aortic prosthesis or a Ross procedure, where the patients native

pulmonary valve is excised and placed in the aortic position (the pulmonary valve is replaced by a

homograft prosthesis). In the Ross procedure, the coronary artery origins must be explanted and

reimplanted into the aortic root.

Echo Checklist – Atrioventricular Septal Defects

1. Identify defect/establish diagnosis.

2. Confirm flow through defect with color.

3. Measure gradient across VSD.

4. Measure size of ASD/VSD.

5. AV valve commitment and attachments.

6. Measure relative sizes of ventricles.

7. Measure RV pressure.

8. Evaluate LV outflow tract.

9. Look for associated anomalies.

10) Truncus arteriosus

Definition. Truncus arteriosus may be defined as origin of a

single great artery from the heart which then gives rise to both

the pulmonary arteries and aorta. Essential in the definition of

truncus arteriosus is the absence of a pulmonary valve whether

patent or atretic. Truncus arteriosus occurs in approximately

2% of patients with congenital heart disease.

Anatomy. The intracardiac anatomy of truncus arteriosus is

very similar to that of tetralogy of Fallot. A large VSD of the

"malalignment" type is seen in the outflow septum with

overriding of a great vessel. In this case the overriding vessel is not the aorta but a common "trunk" which

gives rise to both the aorta and pulmonary arteries. The valve in this great artery is called the "truncal" valve

and is often abnormal. It may have 2-6 cusps and is often thickened and dysplastic with varying degrees of

stenosis and insufficiency. The pulmonary arteries arise from the trunk just distal to the truncal valve in

several different orientations.

Associated Defects.

Abnormal origin and course of coronary arteries (37-49%)

Right aortic arch (30%)

Abnormal number of truncal valve cusps: trileaflet (69%),

quadricuspid (22%),bicuspid (9%)

Absence of one pulmonary artery (16%)

Interruption of the aortic arch (15%)

Left SVC (12%)

Secundum ASD (9-20%)

Truncal valve stenosis and insufficiency

Hemodynamics. Mixing of arterial and venous blood occurs at the ventricular level and in the common

trunk and may produce mild cyanosis. The right ventricle and usually both pulmonary arteries are under

systemic (high) pressure. Truncal valve stenosis produces pressure overload of both ventricles. Truncal

valve insufficiency may also be severe, resulting in further volume overload. The frequent occurrence of

associated defects, often makes a bad situation worse. Interruption of the aortic arch leads to severe

obstruction to systemic flow (in neonates) after closure of the ductus arteriosus. Absence of one pulmonary

artery will place a tremendous amount of flow into the remaining artery. The frequent occurrence of truncal

valve abnormalities also places added strain on the heart.

Clinical. Patients with truncus arteriosus are usually discovered shortly after birth due to a heart murmur

from flow across the often abnormal truncal valve. However, since the pulmonary arteries arise from the

trunk and since the this structure is at systemic pressure, severe pulmonary overcirculation and congestive

heart failure ensue as pulmonary resistance falls after birth. Heart failure symptoms usually are more

Large

"malalignment"

VSD with great

v essel

ov erriding

Pulmonary arteries arise

f rom single trunk

TTrruunnccuuss AArrtteerriioossuuss Anatomy

Dy splastic

truncal

v alv e with

multiple

cusps

Type I Type II

Type

III

TTrruunnccuuss AArrtteerriioossuuss Anatomy

prevalent than cyanosis and heart failure is often severe and early.

Echocardiographic Evaluation of Truncus Arteriosus

Echo Checklist – Truncus Arteriosus

1. Evaluate truncal valve morphology and hemodynamics.

2. Delineate origin/course of the main pulmonary trunk, right

and

left pulmonary arteries.

3. Evaluate ventricular function.

4. Evaluate anatomy and branching of aortic arch.

RA

LA

RV

LV

Corrected Transposition

Anatomy

Practical Summary - Truncus Arteriosus

1. Timing of surgery - usually as a newborn or within the first month.

2. The repair utilizes an extra-cardiac conduit (RV-PA) which will require multiple re-operations for conduit

changes with growth and age.

11) Congenitally Corrected Transposition of the Great Arteries (L-TGA)

Anatomy. This entity is also called "L-transposition", "ventricular

inversion" and a number of other names to try to identify the complexity of

the problem. For this discussion, the term ventricular inversion may be the

easiest to understand. The morphologic (that is, coarsely trabeculated and

triangular shaped) right ventricle is located under the left atrium on the left

and posterior side of the heart and the morphologic left ventricle (smooth

walled, conical shape) is located under the right atrium on the right and

anterior side of the heart. The atrioventricular valves go with the ventricles.

This means that the tricuspid valve is still within the body of the right

ventricle even thought the right ventricle is on the left. The aorta ends up in a

position which is anterior and leftward of the pulmonary (exactly the

opposite of normal).

Pathophysiology and Blood Flow. Despite the abnormal connection (discordance), the blue blood goes to the

lungs and the red blood goes to the aorta. In the absence of associated defects, the blood flow through these

hearts is entirely normal. Any derangement in flow is due to additional, associated defects.

Associated Defects. Ventricular septal defect, most

often perimembranous, is the most common defect,

occurring 80% of the time. Some degree of

pulmonary valve stenosis is seen in about 59% of

cases. Tricuspid valve (left AV valve) abnormalities

including Ebstein's malformation are present in up to

90% of patients. The significance of this finding is that

this valve is now the systemic AV valve and

regurgitation is less well tolerated. Conduction

abnormalities particularly complete heart block are

seen in up to 30% of cases. Dextrocardia is present

in 25% of cases, adding another level of complexity

to the anatomy.

Associated Defects

·Atrial septal defect

· Ventricular septal defect

· Pulmonary stenosis, subpulmonary stenosis

· Dysplastic left AV(tricuspid) valve

· Straddling left AV valve

· Superio-inferior ventricles

· Aortic/ subaortic stenosis

· Coarctation of the aorta/ arch anomalies

· Visceral situs abnormalities (situs inversus)

· Abnormalities of cardiac position (dextrocardia)

· Rhythm abnormalities (heart block, SVT)

RA

RV

LV

LA

The septal tricuspid

leaf let is displaced

apically creating an

"atrialized" right

v entricle.

The anterior

tricuspid leaf let is

large and

"sail-like".

An ASD is present in a large

percentage of cases.

Ebstein’s Anomaly Anatomy

Practical Summary - Corrected Transposition

1. Timing of surgery - depends upon the nature of the associated defects (VSD, PS).

2. High incidence of complete heart block, either spontaneous or post-operative.

12) Ebstein's Anomaly of the Tricuspid Valve

Anatomy. Ebstein's anomaly is a severe

deformity of the tricuspid valve which results from

failure of the normal development of the septal and

posterior leaflets. These leaflets become displaced

apically and adherent to the wall of the right

ventricle and septum. The anterior leaflet becomes

enlarged and "sail-like" with variable attachments to

the trabecular portion of the right ventricle and

outflow area. In a small percentage of cases, the

tricuspid valve can be imperforate, or stenotic

creating an unusual tricuspid valve atresia or

stenosis.

Echo Checklist – Corrected Transposition

1. Identify the basic anatomy - abnormal semilunar valve position

2. Identify associated defects (VSD, PS)

3. Check ventricular function (morphologic right ventricle is systemic ventricle)

4. Evaluate left sided AV valve morphology and integrity

LV RV

RA

LA

LV RV

Apical Four-Chamber

View

Corrected Transposition

Corrected Transposition Parasternal Short-Axis View

Pathophysiology and Blood flow. The apical displacement of

the valve reduces the effective volume of the right ventricle

available for pumping function. In addition, the Ebstein's valve

usually is quite insufficient. All of these factors contribute to

tricuspid insufficiency, poor forward flow, and the potential for

right-to-left shunt through and ASD or foramen ovale. The net

result of the poor forward flow may mimic pulmonary atresia.

Thus, patients with Ebstein's anomaly may be profoundly

cyanotic, particularly as newborns. This cyanosis usually

resolves after several weeks and patients with Ebstein’s anomaly

may be clinically quite well for many years into young adulthood.

Those patients with an ASD will usually begin shunting right-to-

left in the late teen years and symptoms of exertional dyspnea

may occur.

Associated Defects. An atrial septal defect is present in 40-60% of patients with Ebstein's. Right atrial

enlargement is present to varying degrees, but may be significant resulting in massive cardiomegaly on chest

x-ray. Ventricular defects are occasionally present. Patients with this problem have a higher incidence of

the Wolff-Parkinson-White syndrome and resultant supraventricular tachycardia.

Echocardiographic Evaluation of Ebstein’s Anomaly

Ebstein's anomaly is an extremely rare

deformity. Patients usually present as

infants. The heart may be markedly

enlarged, usually due to right atrial

enlargement. Dysfunction of both right

and left ventricles may be present. The

diagnosis is made by

echocardiography. There is usually

little need for other tests. Care must

be taken to identify the chordal

attachments of the mobile anterior

leaflet.

Parasternal Long Axis View

Ebstein's Anomaly

Parasternal RV Inflow

Ebstein's Anomaly

RV

RA

IVC

LV

RV

LA RA

IVC

PA AV

Parasternal Short Axis - Base

Ebstein's Anomaly

Apical Four-Chamber View

Ebstein's Anomaly

RA

LA

LV

RV

Practical Summary - Ebstein’s Anomaly

1. Timing of surgery - Depends upon the severity of the deformity, clinical status and presence of ASD.

2. Enlarging heart size, exertional problems, developing cyanosis, may be clinical indications to intervene.

3. Operation to close ASD and repair tricuspid valve should be timed to avoid multiple operations.

Unique Congenital Obstructions

There are many intracardiac obstructive lesions which are congenital, and therefore, unique to pediatric

cardiology. It is uncommon for congenital heart disease to be found in multiple members of a single

family. However, when this does occur with right or left-sided obstructive lesions, the same side of the

heart is usually affected. For example, one sibling may have subaortic stenosis, and another sibling may

have coarctation of the aorta. It is also common for multiple left-sided obstructive lesions to be found in

the same patient. When this occurs, it is called Shone’s syndrome. The following are brief descriptions

of several of the uniquely congenital obstructive lesions with their echocardiographic features.

LEFT HEART OBSTRUCTIVE LESIONS

Cor Triatriatum (three atria)

This lesion is a membrane within the left atrium which obstructs pulmonary venous inflow into the body

of the left atrium. Embryologically, the pulmonary veins form a confluence behind the left atrium, and

this ‘common pulmonary vein confluence’ grows toward the back of the left atrium, merges with the rest

of the forming left atrium, and forms a single, larger chamber. In fact, most of the tissue present in the

normal left atrium is made up of tissue from the primitive pulmonary venous confluence. The

embryologic left atrium remains as the left atrial appendage.

Cor triatriatum results from failure of the common pulmonary vein to be incorporated completely into the

posterior of the left atrium. This produces the appearance of a third atrial chamber. The common

pulmonary venous chamber (third atrium) remains separate from the rest of the left atrium except for a

small, stenotic orifice . The atrial appendage, foramen ovale and mitral valve are on the "down stream

side" or distal to the obstructive membrane. The mitral valve is usually normal. Symptoms from this

obstruction are similar to mitral stenosis, with tachypnea and pulmonary venous edema. This defect may

not produce any symptoms initially after birth since the degree of obstruction is variable and the

pulmonary flow is initially low. Symptoms may take weeks or months to become evident. Repair is an

open procedure to remove the membrane. The timing of surgery is dictated by the symptoms.

Echo Checklist – Ebstein’s Anomaly

1. Define septal tricuspid displacement

2. Check attachments, tethering, mobility of the anterior tricuspid leaflet

3. Check for ASD and direction of shunting

4. Check septal position and ventricular function

Supravalvar Mitral Ring

Supravalvar mitral ring is another intracardiac

obstructive lesion which can form within the left

atrium and obstruct pulmonary venous inflow. The

embryologic origin of this obstruction is unknown.

In at least 90% of cases, supravalvar mitral ring is

associated with other left heart obstructions (Shone’s

syndrome). The location of this fibrous ridge is

between the left atrial appendage and the mitral

valve. It can be distinguished from cor triatriatum by

its location below the atrial appendage, rather than

above it. The usual supravalvular mitral ring is very

close to the mitral valve, with separation from the mitral leaflets frequently only noted during diastole.

The membrane may become adherent to the mitral valve itself and cause thickening and abnormal

motion of the mitral valve leaflets. Symptoms are those of mitral stenosis, including tachypnea,

breathlessness with exertion, and pulmonary venous edema. Symptoms of supramitral membrane

usually, but not always, occur somewhat later in childhood. Repair of supramitral membrane is similar to

that of cor triatriatum.

Imaging/Doppler of Left Heart Inflow Obstructions

The membrane of cor triatriatum and the supravalvar mitral ring may each be visualized in the

parasternal long axis view, in the subcostal frontal and oblique views, and in the apical four chamber

view. The various subcostal views and parasternal long axis view may be most helpful in demonstrating

whether the membrane is above or below the level of the left atrial appendage.

With cor triatriatum, the color flow mosaic jet begins at the membrane orifice into the LA. The CW

Doppler beam should be aligned with the color flow jet to obtain the peak velocity across the

obstructive orifice. With the supravalvar mitral ring, the color mosaic usually begins just at the valve and

sprays into the ventricle. Its Doppler flow pattern would be delineated in a fashion similar to that of

mitral stenosis. Evaluation with pressure ½ time and peak/mean gradient should be done.

Late postoperative imaging should reveal normal anatomy and function. Residual mitral valve stenosis or

regurgitation should be evaluated, although these are unusual findings. Early postoperative imaging

should document the resolution of pulmonary hypertension if it was present preoperatively.

Subaortic Stenosis

Membranous Subaortic Stenosis

Discrete, membranous subaortic stenosis makes up 85% of the subaortic stenosis found in childhood.

In this type, a thin, diaphragm-like membrane is found below the aortic valve roughly in parallel to the

plane of the aortic annulus. Usually, the membrane is from one to a few millimeters below the aortic

annulus. It is attached to the ventricular septum on the rightward anterior aspect, and usually forms a

‘curtain-like’ ring in the left ventricular outflow tract. It may occasionally be associated with a small

perimembranous ventricular septal defect, coarctation of the aorta, or valvular aortic stenosis. The

obstructive membrane creates an eccentric, turbulent jet of blood flow beginning below and extending

through the aortic valve. This flow disturbance may cause thickening of the aortic valve over time. Aortic

RV

LA

LV

RA

RV

LA

LV

RA

Cor Triatriatum Supramitral Ring

Left Atrial Membranes

insufficiency frequently develops since the membrane blocks part of the aortic valve but allows

accelerated flow across the rest of the valve. Aortic regurgitation is rarely severe. Symptoms and clinical

findings are similar to those of aortic valve stenosis.

Tunnel Subaortic Stenosis

Tunnel subaortic stenosis makes up the other 15% of subaortic stenosis. Many authors believe that

there is a spectrum of disease between the thin membrane described above and tunnel subaortic

stenosis. In tunnel subaortic stenosis, a fibrous or fibromuscular cuff of obstructive tissue of variable

length develops below the aortic valve in the left ventricular outflow tract. It is often associated with

concentric left ventricular hypertrophy, and less commonly with asymmetric septal hypertrophy and

hypercontractility of the LV. It may also be found in patients with multiple left heart obstructions

(Shone’s syndrome). Symptoms and clinical findings are similar to those of aortic valve stenosis.

Imaging/Doppler of Subaortic Stenosis

Parasternal long axis , apical, and subcostal oblique views of the LV outflow tract are best for imaging

both types of subaortic stenosis. When imaging patients with the discrete subaortic membrane, the

membrane is very thin, so that the highest frequency transducer that is practical will give the best images.

With both types of subaortic stenosis, the aortic and mitral valves may also be abnormal and should get

special attention. With discrete subaortic stenosis, the peak gradient should be obtained and most

closely correlates with the gradient at catheterization. Combining pulsed wave Doppler with continuous

wave Doppler can help to localize the level of obstruction within the left ventricular outflow tract. The

presence or absence of aortic insufficiency should be carefully noted and quantitated. With tunnel

subaortic stenosis, the modified Bernoulli equation may underestimate the peak gradient (by neglecting

viscosity) compared to measurement at catheterization.

Perioperative Echo/Doppler

It is our practice to perform intraoperative transesophageal echocardiography to further demonstrate the

anatomy of the subaortic stenosis for the surgeon immediately before resection. After rewarming and

removal from bypass, the patient’s LV function is re-evaluated, the LV outflow tract is scanned for the

presence of residual obstruction, any residual gradient across the LVOT is quantified, and aortic valve

insufficiency is re-assessed.

Late postoperative evaluations concentrate on the status of the aortic valve. A small percentage of

subaortic membranes will grow back and require reoperation.

LV LA

AO

MV

R

V

Membrane

Subaortic Membrane Parasternal Long-Axis View

SSuubbaaoorrttiicc MMeemmbbrraannee

SShhoorrtt--AAxxiiss VViieeww

RV

LA

RA

IVC

PA

Membrane

Coronary Arteries

Coronary artery anomalies may be classified into:

1) Abnormalities of clinical importance 2) Abnormalities of surgical importance

Abnormalities of Clinical Importance

Anomalous left coronary artery from the

pulmonary artery

This rare coronary anomaly generally presents clinically

at about 2-3 months of age. Understanding the

physiology is important to understand the disease. As

fetal and newborn pulmonary resistance falls, there is

diminished perfusion to the left coronary system. This

results in progressive ischemia to the left ventricle.

Infants will often present with diaphoresis, crying with

feeds (infant angina) and irritability. During this time, the

right coronary enlarges and there is development of collateral flow through the right coronary to the left.

This may often be exuberant and some patients will survive this period and redevelop good ventricular

function. The majority will present much as a dilated cardiomyopathy, with signs of congestive heart

failure and angina, both subtle in the infant. Echocardiographically this may be mistaken for dilated

cardiomyopathy or myocarditis, so careful evaluation of the coronary anatomy is needed. The

anomalous coronary may exhibit significant shunting into the main pulmonary artery. The site of entry can

be variable and sometime deceptive. An ECG showing signs of LV ischemia in children is

pathognomonic for this entity. It is also known as the Bland-White-Garland syndrome.

Treatment is surgical with the aim of re-establishing a two coronary system. This may be accomplished

by several techniques, but the most common is simple re-implantation of the anomalous coronary.

Anomalous left coronary from the right coronary

This is another rare coronary anomaly. In this instance the left

coronary arises from the right sinus of Valsalva as a single coronary

or with a separate orifice from the right coronary. In either case, the

course of the coronary is between the two great arteries. This entity

has been described in cases of syncope, chest pain, and sudden

death in teenagers and young adults.

Echocardiographically it is difficult to visualize in many patients. The

best clue may be the absence of the normal origin of the left main coronary from the left coronary sinus.

Abnormalities of Surgical Importance

RCA

LCA

Anomalous LCA from Pulmonary Artery

(ALCAPA)

AV

RCA

LCA

Anomalous LCA from Right Coronary

AV

Anomalous left anterior descending coronary from the right

coronary

This anomaly is found in about 5% of patients with

conotruncal anomalies, particularly tetralogy of Fallot. The left

anterior descending (LAD) coronary arises from the right

coronary and courses over the right ventricular outflow tract

to its usual destination. The surgical importance arises from

the frequent use of an incision in the right ventricular outflow

tract to relieve subpulmonary obstruction. If the coronary

anomaly is unknown, this may result in inadvertent severing of

the artery with catastrophic results. The presence of this

anomaly may significantly alter the timing or style of surgery. It is often the reason that an artificial

conduits are used in this repair.

Echocardiographically this entity is much as seen above. The origin and course of the LAD must be

carefully examined from multiple views.

RCA

LAD

CIRC

Tetralogy of Fallot Anomalous LAD from RCA

AV

Area where potential

ventriculotomy

incision

would be.

Anomalous Pulmonary Venous Return

Anomalous pulmonary venous return is a rare congenital anomaly which has several anatomic

variations. The most common is supracardiac (45% of total cases). There are features from each for

of TAPVR which are common to each entity. These are easily seen on echocardiography. Anomalous

pulmonary veins will connect to the systemic venous system. Therefore, echocardiographic evaluation

should include a careful examination of usual systemic veins as well as their embryologic remnants.

These include the IVC, SVC, Left SVC and coronary sinus. Anomalous pulmonary venous return

may also be “mixed” and use some connections for right-sided veins and other connections for the

left-sided veins. Infracardiac (infradiaphragmatic) TAPVR is often a surgical emergency because

these veins are almost invariably obstructed as they pass through the liver. Other forms of TAPVR

may also become obstructed and this should be evaluated. Infracardiac forms of TAPVR account for

24% of total cases with 26% presenting as direct cardiac connections. The most common of these is

direct connection to the coronary sinus, behind the left atrium. This form is generally unobstructed and

may remain asymptomatic for some time. Five percent of cases represent mixed forms of connection.

RA

RV

LV

MPA AO

Infracardiac Supracardiac

RA

RV

LV

MPA AO

Coronary

sinus

RA

RV

LV

MPA AO

Cardiac

RA

RV

LV

MPA AO

Total Anomalous Pulmonary Venous Return Anatomic Types

Echo Features of TAPVR

1. Large right ventricle

2. Smaller left heart

3. Right to left atrial shunt (ASD is always present)

4. Possible complex ventricular anatomy (single ventricle)

General Principles of Postoperative Congenital Heart Disease

Repair of congenital heart disease has progressed tremendously over the last 40-50 years, resulting in

improved survival for many defects which are otherwise lethal if left untreated. Diagnostic techniques

such as echocardiography and cardiac catheterization have also undergone significant improvement

which has aided in this effort. The general trend in this area in recent years has been to repair early and

not perform the so-called palliative operations, done more frequently in the past. As techniques have

improved in the

operating room for

managing small infants

on cardiopulmonary

bypass, this has

become technically

possible.

There have been

multiple choice

questions on past

ASCexams which ask

for knowledge of the

meaning of the surgical

procedures shown at

the right. Those names

which are underlined

have become common acronyms for the procedure. Study this list!

Palliative vs. Corrective Procedures

Palliative operations provide a temporary surgical treatment for a compelling clinical conditions (i.e.

extreme cyanosis, marked pulmonary hypoplasia, severe pulmonary overcirculation, etc).

The definition of a corrective surgical procedure is controversial. Corrective operations can produce

one or more of the following three objectives: normal anatomy, normal hemodynamics, and/or normal

physiology. The ideal corrective surgical procedure is one which will produce normal anatomy,

hemodynamics and physiology in a single stage without the need for future reoperations. An example of

an ideal corrective surgical procedure is the primary closure of an atrial septal defect.

Certain procedures produce only a physiologic correction. An example of such a procedure is a

total cavopulmonary connection (Fontan procedure). This correction is performed in hearts with single

ventricle physiology.

A Brief History of Congenital Heart Disease Operations 1938 - Gross - ligation of PDA

1944 - Blalock, Taussig - systemic-pulmonary shunt/subclav. art to pulm artery

1945 - Gross, Crafoot - repair of coarctation

1946 - Potts - descending aorta to LPA shunt/direct side-to-side anastomosis

1952 - Muller - pulmonary artery band

1953 - Gibbon - repair of ASD

1954 - Lillehei - repair of VSD

1954 - Glenn - SVC to PA shunt

1954 - Mustard - atrial correction of transposition

1955 - Lillehei, Kirklin - repair of TOF

1960 - Waterston - aorta to RPA shunt/ direct side-to-side anastomosis

1964 - Rastelli - conduit to replace pulmonary artery/close VSD

1967 - Rashkind - balloon atrial septostomy (catheter)

1971 - Fontan, Kreutzer - repair of tricuspid atresia

1976 - Jatene - arterial switch for transposition

1978 - - cold blood cardioplegia

Palliative Operations

Palliative operations are done when circumstances do not allow for a complete repair. The reasons are

varied and may relate to the anatomy, size of the patient and surgeons skill and experience. Different

types of palliative operations are listed below.

Table of Palliative Operations Operation

Description

Utility

Complications

1. Classic Blalock-Taussig

Shunt

Subclavian artery to

pulmonary artery

Increases pulmonary

blood flow

Distortion of pulmonary artery

2. Modified Blalock-

Taussig Shunt

Subclavian artery to

pulmonary artery gore-tex

interposition graft

Increases pulmonary

blood flow

Distortion of pulmonary artery

3. Central shunt

Ascending aorta to

pulmonary artery graft

Increases pulmonary

blood flow

Less distortion

4. Waterston shunt

Ascending aorta to right

pulmonary artery

anastomosis

Increases pulmonary

blood flow

Distortion of pulmonary

artery, pulm. hypertension

5. Pott’s Shunt

Descending aorta to left

pulmonary artery

anastomosis

Increases pulmonary

blood flow

Distortion of pulmonary

artery, pulm. hypertension

6. Glenn Shunt

SVC to right pulmonary

artery

Provides flow under low

pressure to PA

Pulmonary AV fistula

7. Pulmonary Artery Band

Constricting band around

MPA

Reduce pulmonary blood

flow

Distortion of pulmonary artery

Palliative Operations

BLALOCK

TAUSSIG

1944

CENTRAL SHUNT

(GoreTex tube)

WATERSTON

1960

LSCA

LPARPA

LCCA

RCCA

AO

SVC

POTT'S

1946

MODIFIED

BLALOCK

TAUSSIG

de LEVAL 1981

GLENNSHUNT

1954

6

54

3

2

1

PA BAND

7

Modified Fontan - Kreutzer Operation

S V C

I V

C

" RA "

Closure of ASD

Closure of Inflow through AV Valve

RPA LPA

M P

A

ANASTOMOSIS

LIGATION

1

2

3

Total Cavo-Pulmonary Anastomosis

S

V

C

I

V

C

RPA LPA

M

P

A

1

2

3

LA AO

ANASTOMOSIS

Atrial

Tunnelal

LIGATION

Corrective Operations

Operations which are considered to be “corrective” should return all of the blood to the point where it

would go in a normal 4-chamber heart. Ideally this should also involve two ventricles. Some

“corrective” operations do not restore completely normal valvular integrity (e.g. tetralogy of Fallot).

The Fontan-type Operation for Single Ventricle*

The concept of partial circulatory bypass of the right heart was first successfully achieved in 1958 by

Glenn. The concept was later modified and popularized by Fontan (1971) and Kreutzer (1971).

Newer modifications have directly joined the inferior and superior vena cavae using a tunnel through the

right atrium with direct caval anastomosis to the pulmonary arteries (the so-called “total cavo-pulmonary

anastomosis”).

Knowledge of this operation is important because, although it is used on only rarely occurring defects, it

is a unifying concept, which when taken as a whole, encompasses many different patients.

Goals of the Fontan Operation 1. Separate systemic and pulmonary circulations. 2. Remove volume load from the (single) pumping chamber. Fontan - Operative Concept 1. Direct the systemic venous blood to the lungs. 2. No pumping chamber in the pulmonary circuit. 3. Allow ventricle(s) to pump pulmonary venous blood to body.

Congenital heart defects which are repaired using the Fontan operation

•Hypoplastic left heart syndrome

• Hypoplastic right heart syndrome

• Tricuspid valve atresia or mitral valve atresia

• Double-inlet single ventricle

• Common-inlet single ventricle

• Complex AV valve straddling which results in one hypoplastic ventricle

Exam Tips

Exam items which have previously appeared are no guarantee that they will be on every exam. The

exam writers choose from a question bank and each year’s exam differs from previous exams.

Like most board exams, questions are evaluated after each exam for validity and some are

discarded if the answers clearly do not produce a consensus. The following represent some tips

which have been given by previous examinees based on their experience to give course

participants an idea of the type of questions which they might face.

Congenital things which have appeared on previous exams:

Video Test

VSD w/ aneurysm vs. ruptured sinus of Valsalva

Supracristal VSD with aortic regurgitation

Secundum ASD demonstrated by negative contrast

Written Test

Description of Ebstein’s anomaly

Associated problems w/ bicuspid aortic valve

– Post-stenotic dilation, coarctation, degeneration

– Bicuspid vs. unicommissural

Picture of sub-aortic membrane

Picture of tricuspid atresia

Picture of L-Transposition – a favorite question

Knowledge of AV canal defects

Anomalous left coronary artery from the pulmonary artery (ALCAPA)

Associations w/ primum ASD – know cleft MV

QP/QS calculations – usually with an ASD

Sinus venosus ASD – TEE picture and common associations – know PAPVR

Timing of fetal echocardiography

– Know what might be hard to spot in a 20-week fetus – perimembranous

VSD

– Easy things to spot are hypoplastic chambers or big VSD’s, AV canal,

conotruncal defects

Knowledge of associations with supracristal VSD – aortic cusp prolapse

Look-alikes for DORV and VSD – tetralogy of Fallot

Case of adult w/ PO tetralogy and increased RV pressure – think peripheral PS

Noonan’s, William’s, Turner’s, Marfan’s syndromes – associated anomalies

Common associated lesions with coarctation (other left heart obstructions)

Uhls’ Anomaly

Uhl’s anomaly is a very rare anomaly with parchment-like right ventricle and

almost complete absence of RV muscle fibers. In appearance it has similarities

to Ebstein’s anomaly, except that the tricuspid valve is anatomically normal. It

has been associated with arrythmogenic right ventricular dysplasia.